ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132325
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43241
ClinVar RCV Id:
RCV000036145
RCV000778344
RCV001113191
RCV001113192
RCV001239874
RCV001273499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Leu1484Phe
CA132324
NM_000260.4:c.4450C>T