ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802446
Gene: CRYAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000623807
RCV003457728
ClinVar Variation:
521018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000385.1:p.Arg116Ser
CA410605796
NM_000394.4:c.346C>A