ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705542
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418595
ClinVar RCV Id:
RCV000487073
RCV000809375
RCV002341129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Val154Ile
CA10601214
NM_007298.3:c.460G>A