ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103430
Gene: CRYAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16957
ClinVar RCV Id:
RCV000018469
RCV001091467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000385.1:p.Arg116Cys
CA214969
NM_000394.4:c.346C>T