ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825137894
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001269068
RCV004526825
RCV004545164
ClinVar Variation:
987769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp75His
CA386304179
NM_000277.3:c.223G>C