ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741916113
Gene: COL8A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2888150
ClinVar RCV Id:
RCV003724724
RCV004374015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005193.1:p.Gly601Ala
CA764868
NM_005202.4:c.1802G>C