×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2819116530
Gene: SAMM50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998551_43998552del , CM000684.2:g.43998551_43998552del
GRCh38
NC_000022.10:g.44394431_44394432del , CM000684.1:g.44394431_44394432del
GRCh37
NC_000022.9:g.42725764_42725765del
NCBI36
NG_029743.1:g.4341_4342del
NG_029743.2:g.4341_4342del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465768.1:n.79+8145_79+8146del
Search 100 bp 5'
Search 100 bp 3'