ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060947
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333057
ClinVar RCV Id:
RCV000319906
RCV000523302
RCV001189166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro619Leu
CA074732
NM_000090.4:c.1856C>T