ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320714
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418368
ClinVar RCV Id:
RCV000482515
RCV000504890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Pro1232Leu
CA6198178
NM_001369365.1:c.3695C>T