ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829701320
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219464
ClinVar RCV Id:
RCV000204481
RCV000222081
RCV000487539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Asn638Ser
CA348708
NM_007298.3:c.1913A>G