Canonical Allele Identifier: PA916037343
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 622
ClinVar RCV Id: RCV000000653 RCV000088911
ClinVar Variation Id: 585206
ClinVar RCV Id: RCV000709702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Met1Ile
CA229532
NM_001354304.2:c.3G>A
CA386303908
NM_001354304.2:c.3G>T
CA386303909
NM_001354304.2:c.3G>C