ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573060911
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199711
ClinVar RCV Id:
RCV000586266
RCV000698663
RCV001190472
RCV004537520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Thr187Ile
CA006991
NM_000090.4:c.560C>T