ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139695185
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
899128
ClinVar RCV Id:
RCV001143420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro917Ser
CA349844042
NM_000090.4:c.2749C>T