ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573060505
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519601
ClinVar RCV Id:
RCV000634709
RCV001180581
RCV001570822
RCV001251398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Asn76Asp
CA075150
NM_000090.4:c.226A>G