ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697326
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_009228.2:p.Asn1695Ser
CA348708
NM_007297.4:c.5084A>G