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ClinGen Allele Registry
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Canonical Allele Identifier:
CA350636653
Community Standard Title: NM_002181.4(IHH):c.298G>C (p.Asp100His)
Gene: IHH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060170C>G , CM000664.2:g.219060170C>G
GRCh38
NC_000002.11:g.219924892C>G , CM000664.1:g.219924892C>G
GRCh37
NC_000002.10:g.219633136C>G
NCBI36
NG_016741.1:g.5347G>C
Transcript Alleles
HGVS
Amino-acid Change
NM_002181.4:c.298G>C
MANE Select
NP_002172.2:p.Asp100His
ENST00000295731.7:c.298G>C
MANE Select
ENSP00000295731.5:p.Asp100His
NM_002181.3:c.298G>C
NP_002172.2:p.Asp100His
ENST00000295731.6:c.298G>C
ENSP00000295731.5:p.Asp100His
Search 100 bp 5'
Search 100 bp 3'