ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1363686692
Community Standard Title: NC_000003.12:g.49873722G=
Gene: ACTL11P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.49873722G= , CM000665.2:g.49873722G=
GRCh38
NC_000003.11:g.49911155G= , CM000665.1:g.49911155G=
GRCh37
NC_000003.10:g.49886159G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000423971.1:n.4259C=
ENST00000423971.2:n.3584C=
Search 100 bp 5'
Search 100 bp 3'