Canonical Allele Identifier: PA2830121367
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291529
ClinVar RCV Id: RCV000315632 RCV000354589 RCV000896116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Met516Ile
CA974770
NM_080630.4:c.1548G>A
CA341172818
NM_080630.4:c.1548G>T
CA341172820
NM_080630.4:c.1548G>C