ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320279
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000036089
RCV000274914
RCV000318308
RCV000367440
RCV000658008
RCV001171529
RCV001835641
RCV002490493
ClinVar Variation:
43185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Val832Met
CA132253
NM_001369365.1:c.2494G>A