ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828763481
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240993
ClinVar RCV Id:
RCV000231998
RCV000734011
RCV002450702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Lys1102Thr
CA1713500
NM_001378454.1:c.3305A>C